COL6A3 Chromosome 2
Collagen type VI alpha 3 chain
Upload your DNA to see your personal genotypes for variants in COL6A3.
What This Gene Does
This gene encodes the alpha-3 chain, one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The alpha-3 chain of type VI collagen is much larger than the alpha-1 and -2 chains. This difference in size is largely due to an increase in the number of subdomains, similar to von Willebrand Factor type A domains, that are found in the amino terminal globular domain of all the alpha chains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in the type VI collagen genes are associated with Bethlem myopathy, a rare autosomal dominant proximal myopathy with early childhood onset. Mutations in this gene are also a cause of Ullrich congenital muscular dystrophy, also referred to as Ullrich scleroatonic muscular dystrophy, an autosomal recessive congenital myopathy that is more severe than Bethlem myopathy. Multiple transcript variants have been identified, but the full-length nature of only some of these variants has been described. [provided by RefSeq, Jun 2009]
Gene Info
Gene Group
Collagens
Locus Type
gene with protein product
Location
2q37.3
Ensembl
ENSG00000163359
Associated Conditions (30)
Bethlem myopathy 1A
Inborn genetic diseases
Dystonia 27
Ullrich congenital muscular dystrophy 1A
Collagen 6-related myopathy
COL6A3-related disorder
COL6A3-related phenotype
Muscular dystrophy
Tip-toe gait
Limb-girdle muscular dystrophy
Bethlem myopathy 1C
Ullrich congenital muscular dystrophy 1C
Familial cancer of breast
Thyroid cancer
nonmedullary
1
Congenital contracture
Uterine corpus endometrial carcinoma
Clear cell carcinoma of kidney
Malignant tumor of urinary bladder
+10 more conditions
Key Variants
RS1064795558
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Bethlem myopathy 1A
Health Risk
RS111295967
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Bethlem myopathy 1A
Health Risk
RS111379417
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Inborn genetic diseases, Bethlem myopathy 1A
Health Risk
RS111395856
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Dystonia 27, Ullrich congenital muscular dystrophy 1A
Health Risk
RS111481402
Conflicting classifications of pathogenicity
Collagen 6-related myopathy, Bethlem myopathy 1A, Collagen 6-related myopathy
Health Risk
RS111584250
Conflicting classifications of pathogenicity
Collagen 6-related myopathy, Bethlem myopathy 1A, Inborn genetic diseases
Health Risk
RS111803773
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Inborn genetic diseases, COL6A3-related disorder
Health Risk
RS111927395
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Bethlem myopathy 1A
Health Risk
RS112172548
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Collagen 6-related myopathy, Bethlem myopathy 1A
Health Risk
RS112374074
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Bethlem myopathy 1A
Health Risk
RS112540218
Conflicting classifications of pathogenicity
Bethlem myopathy 1A, Bethlem myopathy 1A
Health Risk
RS112817175
Conflicting classifications of pathogenicity
Collagen 6-related myopathy, COL6A3-related phenotype, Bethlem myopathy 1A
Health Risk
All Variants (794)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1559228507 | Health Risk | Pathogenic | — |
| RS1559253935 | Health Risk | Pathogenic | — |
| RS1559257971 | Health Risk | Pathogenic | — |
| RS1559261557 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS1559280064 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS1574719512 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS1574724863 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS1574942920 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS1574975203 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS1574990526 | Health Risk | Pathogenic | — |
| RS2076967147 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2077054122 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2077379376 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2077385886 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2077442468 | Health Risk | Pathogenic | — |
| RS2077607833 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2106312317 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2106317762 | Health Risk | Pathogenic | Ullrich congenital muscular dystrophy 1A, Ullrich congenital muscular dystrophy 1A |
| RS2106324666 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2106324972 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2106325341 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2106341460 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2106343479 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2106344225 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2106361236 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2106366689 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2106367443 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2106388332 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2469799960 | Health Risk | Pathogenic | Bethlem myopathy 1C, Bethlem myopathy 1C |
| RS2469804002 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2469819229 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1C, Bethlem myopathy 1A |
| RS2469845990 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2469862075 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2469867055 | Health Risk | Pathogenic | Bethlem myopathy 1C, Bethlem myopathy 1C |
| RS2469872324 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2469880434 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2469883327 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2469888379 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2469889068 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2469889428 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2469905125 | Health Risk | Pathogenic | Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A |
| RS2469928713 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2469949831 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS2469975035 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS398124126 | Health Risk | Pathogenic | Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1C |
| RS749037028 | Health Risk | Pathogenic | Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1C |
| RS757187481 | Health Risk | Pathogenic | Bethlem myopathy 1A, Bethlem myopathy 1A |
| RS758124326 | Health Risk | Pathogenic | — |
| RS758626447 | Health Risk | Pathogenic | Bethlem myopathy 1C, COL6A3-related disorder, Bethlem myopathy 1A |
| RS762768377 | Health Risk | Pathogenic | Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A |